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Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review

Journal of inherited metabolic disease, 2008-04, Vol.31 (2), p.205-216

2008

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Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy

American journal of human genetics, 2007-12, Vol.81 (6), p.1133-1143

2007

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Phytanic acid: production from phytol, its breakdown and role in human disease

Cellular and molecular life sciences : CMLS, 2006-08, Vol.63 (15), p.1752-1765

2006

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Clinical variability of isovaleric acidemia in a genetically homogeneous population

Journal of inherited metabolic disease, 2012-11, Vol.35 (6), p.1021-1029

2012

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Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids

Cellular and molecular life sciences : CMLS, 2009-04, Vol.66 (7), p.1283-1294

2009

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Fatty acid metabolism in Saccharomyces cerevisiae

Cellular and molecular life sciences : CMLS, 2003-09, Vol.60 (9), p.1838-1851

2003

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Phytanic acid impairs mitochondrial respiration through protonophoric action

Cellular and molecular life sciences : CMLS, 2007-12, Vol.64 (24), p.3271-3281

2007

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Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Journal of inherited metabolic disease, 2008-02, Vol.31 (1), p.88-96

2008

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Polyunsaturated fatty acid status in treated isovaleric acidemia patients

European journal of clinical nutrition, 2016-10, Vol.70 (10), p.1123-1126

2016

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The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)

Endocrinology (Philadelphia), 2012-06, Vol.153 (6), p.2568-2575

2012

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Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

American journal of human genetics, 2006-06, Vol.78 (6), p.1046-1052

2006

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MRI as diagnostic tool in early-onset peroxisomal disorders

Neurology, 2012-04, Vol.78 (17), p.1304

2012

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Rhabdomyolysis: Review of the literature

Neuromuscular disorders : NMD, 2014-08, Vol.24 (8), p.651-659

2014

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Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress

European journal of clinical investigation, 2004-03, Vol.34 (3), p.191-196

2004

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Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency

Neurology, 2010-10, Vol.75 (14), p.1300

2010

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High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease

Journal of inherited metabolic disease, 2003-01, Vol.26 (4), p.385-392

2003

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Peroxisomes, lipid metabolism and lipotoxicity

Biochimica et biophysica acta, 2010-03, Vol.1801 (3), p.272-280

2010

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Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Human molecular genetics, 1999-08, Vol.8 (8), p.1523-1528

1999

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Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

Journal of neurology, neurosurgery and psychiatry, 2008-04, Vol.79 (4), p.448-450

2008

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3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency

Journal of inherited metabolic disease, 2003-07, Vol.26 (1), p.69-71

2003

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2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man

Journal of inherited metabolic disease, 2002-11, Vol.25 (6), p.477-482

2002

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Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients

European journal of cancer (1990), 2019-04, Vol.111, p.21-29

2019

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Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

Journal of inherited metabolic disease, 2009-12, Vol.32 (Suppl 1), p.345-348

2009

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l-Carnitine is Synthesized in the Human Fetal–Placental Unit: Potential Roles in Placental and Fetal Metabolism

Placenta (Eastbourne), 2006-08, Vol.27 (8), p.841-846

2006

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Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MS

Analytical biochemistry, 2017-10, Vol.535, p.47-55

2017

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Valproic acid metabolism and its effects on mitochondrial fatty acid oxidation: A review

Genetic Basis for Correction of Very-Long-Chain Acyl–Coenzyme A Dehydrogenase Deficiency by Bezafibrate in Patient Fibroblasts: Toward a Genotype-Based Therapy

Phytanic acid: production from phytol, its breakdown and role in human disease

Clinical variability of isovaleric acidemia in a genetically homogeneous population

Pyruvate dehydrogenase kinase 4 expression is synergistically induced by AMP-activated protein kinase and fatty acids

Fatty acid metabolism in Saccharomyces cerevisiae

Phytanic acid impairs mitochondrial respiration through protonophoric action

Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: The importance of enzyme analysis to ascertain true MCAD deficiency

Polyunsaturated fatty acid status in treated isovaleric acidemia patients

The Inflammatory Response in Acyl-CoA Oxidase 1 Deficiency (Pseudoneonatal Adrenoleukodystrophy)

Mutations in the Gene Encoding Peroxisomal Sterol Carrier Protein X (SCPx) Cause Leukencephalopathy with Dystonia and Motor Neuropathy

MRI as diagnostic tool in early-onset peroxisomal disorders

Rhabdomyolysis: Review of the literature

Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress

Relapsing rhabdomyolysis due to peroxisomal alpha-methylacyl-coa racemase deficiency

High activity of fatty acid oxidation enzymes in human placenta: Implications for fetal‐maternal disease

Peroxisomes, lipid metabolism and lipotoxicity

Identification and Characterization of Three Novel Missense Mutations in Mevalonate Kinase cDNA Causing Mevalonic Aciduria, a Disorder of Isoprene Biosynthesis

Relapsing encephalopathy in a patient with α-methylacyl-CoA racemase deficiency

3‐Hydroxy‐2‐methylbutyryl‐CoA dehydrogenase deficiency

2‐Methyl‐3‐hydroxybutyryl‐CoA dehydrogenase deficiency in a 23‐year‐old man

Catecholamine excretion profiles identify clinical subgroups of neuroblastoma patients

Zellweger syndrome with unusual findings: non-immune hydrops fetalis, dermal erythropoiesis and hypoplastic toe nails

l-Carnitine is Synthesized in the Human Fetal–Placental Unit: Potential Roles in Placental and Fetal Metabolism

Advances in methods for characterization of hepatic urea cycle enzymatic activity in HepaRG cells using UPLC-MS/MS

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